Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants

Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants

Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease phenotypes, including immune dysregulation, enteropathy...

Full description

Bibliographic Details
Main Authors: Eriko Totsune, Tomohiro Nakano, Kunihiko Moriya, Daichi Sato, Dai Suzuki, Akinobu Miura, Saori Katayama, Hidetaka Niizuma, Junko Kanno, Menno C. van Zelm, Kohsuke Imai, Hirokazu Kanegane, Yoji Sasahara, Shigeo Kure
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Immunology
Subjects:
infantile-onset fulminant type 1 diabetes mellitus
LRBA deficiency
refractory autoimmune cytopenia
CTLA-4 deficiency
transposable elements (TE)
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.677572/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.677572/full

Similar Items